Canonical Allele Identifier: CA68179825
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs946147120
MyVariant Identifiers: chr2:g.241814827G>A (hg19) chr2:g.240875410G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875410G>A , CM000664.2:g.240875410G>A GRCh38
NC_000002.11:g.241814827G>A , CM000664.1:g.241814827G>A GRCh37
NC_000002.10:g.241463500G>A NCBI36
NG_008005.1:g.11666G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776+206G>A MANE Select ENSP00000302620.3:n.776+206G>A
ENST00000307503.3:c.776+206G>A ENSP00000302620.3:n.776+206G>A
ENST00000476698.1:n.428+206G>A
NM_000030.2:c.776+206G>A NP_000021.1:n.776+206G>A
NM_000030.3:c.776+206G>A MANE Select NP_000021.1:n.776+206G>A
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